Variants from Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia with conflicting interpretations

Minimum review status of the submission from Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia:	clinical testing curation literature only research other
Minimum review status of the other submission:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the other submission:	clinical testing curation literature only research other
Minimum conflict level: confidence conflict (e.g. benign vs likely benign) benign or likely benign vs uncertain conflict category conflict (e.g. benign vs affects) clinically significant conflict (e.g. benign vs pathogenic) Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version: 2024-03-31

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
48	10	0	5	0	0	5	10

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

	All submitters
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia		pathogenic	likely pathogenic	uncertain significance
	pathogenic	0	4	0
	likely pathogenic	1	0	1
	uncertain significance	4	0	0

Submitter to submitter summary #

Submitter	Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
Invitae	0	7	0	2	0	0	3	5
OMIM	0	2	0	0	0	0	2	2
Genetic Services Laboratory, University of Chicago	0	1	0	1	0	0	0	1
MGZ Medical Genetics Center	0	0	0	1	0	0	0	1
Mendelics	0	2	0	0	0	0	1	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	0	1	0	0	0	1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris	0	0	0	0	0	0	1	1
Genome-Nilou Lab	0	3	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His)	rs375168720	0.00006
NM_001371596.2(MFSD8):c.1394G>A (p.Arg465Gln)	rs1275962600	0.00001
NM_014363.6(SACS):c.1201C>T (p.Arg401Ter)	rs769212398	0.00001
NM_025137.4(SPG11):c.6205+1G>A	rs753650233	0.00001
NM_000051.4(ATM):c.1914dup (p.Asp639fs)	rs2080292910
NM_000051.4(ATM):c.3567del (p.Leu1189_Val1190insTer)	rs1555091431
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter)	rs797046101
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp)	rs397514749
NM_015215.4(CAMTA1):c.4621C>T (p.Arg1541Ter)	rs2096866595
NM_031844.3(HNRNPU):c.622C>T (p.Gln208Ter)	rs1573337552